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Trio Sequencing - Postnatal (neonatal and paediatric)

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Trio sequencing analysis for a postnatal scenario. (Previously Exome sequencing trio - postnatal)

EQA INFORMATION

EQA Code
GEXO
Submission
Clinical Report
Techniques
Any methodology
Eligibility
All laboratories worldwide
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
Currently not accredited
EQA open

02 June 2025

Testing period
18 weeks

OTHER INFORMATION

 What are participants required to do?
  • Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.  
  • Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols. 
  • Participants must submit their anonymised results by the deadline using their standard laboratory report.  The submitted results are independently assessed for the accuracy of the analytical/genotyping results, clinical interpretation of the results (if appropriate) and clerical accuracy (including report layout and content). 

What can I expect as a participant?
Every participant will receive:
  • An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
  • The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking. 
  • Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.

Please note: EQA details may be subject to change prior to EQA distribution.   

PRODUCTS

Sample type: DNA in TE buffer
Testing/analysis:

Trio sequencing analysis including classification and interpretation of relevant variants identified.
One trio will comprise DNA samples. The second trio will be data interpretation only.   
Both SNVs and CNVs may be included. 

Conditions/Gene target(s):

Any disorder/gene associated with postnatal trio sequencing analysis.

Number of cases: Two trios

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Trio Sequencing - Postnatal (neonatal and paediatric)

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